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Variegate porphyria information


Variegate porphyria
Other namesMixed hepatic porphyria,[1] Mixed porphyria,[1] South African genetic porphyria,[1]: 525  and South African porphyria.[2]
Protoporphyrinogen IX
SpecialtyEndocrinology Edit this on Wikidata
Symptomsskin problems, Enzyme difficiency.
Causesgenetic mutations.
Treatmentliver transplants.

Variegate porphyria, also known by several other names, is an autosomal dominant porphyria[3] that can have acute (severe but usually not long-lasting) symptoms along with symptoms that affect the skin. The disorder results from low levels of the enzyme responsible for the seventh step in heme production. Heme is a vital molecule for all of the body's organs. It is a component of hemoglobin, the molecule that carries oxygen in the blood.

  1. ^ a b c James, William D, Berger, Timothy G, et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
  2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  3. ^ "porphyria variegata" at Dorland's Medical Dictionary

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Variegate porphyria

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Variegate porphyria, also known by several other names, is an autosomal dominant porphyria that can have acute (severe but usually not long-lasting) symptoms...

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Porphyria

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attack. Acute intermittent porphyria (AIP), variegate porphyria (VP), aminolevulinic acid dehydratase deficiency porphyria (ALAD) and hereditary coproporphyria...

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Acute intermittent porphyria

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porphobilinogen confirms diagnosis of AIP, hereditary coproporphyria (HCP), or variegate porphyria (VP). A positive test should be indicated with an increase of five...

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Hepatic porphyria

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intermittent porphyria Porphyria cutanea tarda and Hepatoerythropoietic porphyria Hereditary coproporphyria Variegate porphyria Erythropoietic porphyria Givosiran...

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Hereditary coproporphyria

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similarly to those with other acute porphyrias, such as acute intermittent porphyria (AIP) and variegate porphyria (VP). Patients with HCP and VP can present...

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Protoporphyrinogen oxidase

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erythropoietic porphyria) Variegate porphyria is caused by mutations in the PPOX gene. More than 100 mutations that can cause variegate porphyria have been...

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Heme

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porphyria) PPOX: protoporphyrinogen oxidase (deficiency causes variegate porphyria) UROD: uroporphyrinogen decarboxylase (deficiency causes porphyria...

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Polymorphous light eruption

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porphyrias. Nearly all cases of porphyria cutanea tarda exhibit blister formation on the skin within 2–4 days of light exposure. Variegate porphyria and...

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Psychomotor agitation

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Alzheimer's disease Acute intermittent porphyria[verification needed] Hereditary coproporphyria Variegate porphyria Side effects of stimulants such as cocaine...

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Porphyrin

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of porphyrins, with references by EC number and the OMIM database. The porphyria associated with the deficiency of each enzyme is also shown: A common...

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Prince William of Gloucester

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suffering from variegate porphyria, by then in remission. A member of the British royal family being reliably diagnosed with porphyria added credence...

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Hives

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inherited cutaneous and neurocutaneous porphyrias (porphyria cutanea tarda, hereditary coproporphyria, variegate porphyria and erythropoietic protoporphyria)...

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Dysuria

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abdomen Reactive arthritis Acute intermittent porphyria Hereditary coproporphyria Variegate porphyria Dysuria at the U.S. National Library of Medicine...

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Chromosome 1

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trimethylaminuria Usher syndrome Usher syndrome type II Van der Woude syndrome Variegate porphyria G-banding ideograms of human chromosome 1 "Search results - 1[CHR]...

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Zuytdorp

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how her husband had died some years before from a disease called variegate porphyria. Playford found that the disease was genetically linked and initially...

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Barbiturate

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contraindicated in the following conditions: variegate porphyria (because of induction of enzymes needed for porphyria synthesis by barbiturates) Status asthmaticus...

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Syndrome of inappropriate antidiuretic hormone secretion

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Guillain–Barré syndrome Acute porphyria (acute intermittent porphyria, hereditary coproporphyria, variegate porphyria) Multiple system atrophy Multiple...

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House season 7

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to help Rachel get into a prestigious preschool. Final Diagnosis: Variegate porphyria Absent: Olivia Wilde as Remy "Thirteen" Hadley 143 11 "Family Practice"...

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Hepatocellular carcinoma

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and chronic hepatic porphyrias (acute intermittent porphyria, porphyria cutanea tarda, hereditary coproporphyria, variegate porphyria) and tyrosinemia type...

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Gunther disease

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include Hepatoerythropoietic Porphyria and rare homozygous variants of Variegate Porphyria, Hereditary Coproporphyria, and STING-associated vasculopathy with...

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List of abbreviations for diseases and disorders

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keratoconjunctivitis VKH Vogt–Koyanagi–Harada disease VOD veno-occlusive disease VP Variegate porphyria VSD Ventricular septal defect VVC Vulvovaginal candidiasis VWD Von...

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List of genetic disorders

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USH1G, USH2A, GPR98, DFNB31, CLRN1 recessive 3-6:100,000 (type I) Variegate porphyria PPOX dominant Viljoen-Kallis-Voges syndrome recessive von Hippel–Lindau...

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Afrikaners

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frequency of some otherwise rare deleterious ailments, including variegate porphyria and familial hypercholesterolaemia. According to a genetic study...

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List of skin conditions

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Tumoral calcinosis Variegate porphyria (mixed hepatic porphyria, mixed porphyria, South African genetic porphyria, South African porphyria) Verruciform xanthoma...

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Alcohol and cancer

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porphyrias, specifically acute intermittent porphyria, variegate porphyria and hereditary coproporphyria. Porphyria cutanea tarda is also associated with HCC...

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Carrot or Stick

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they have a genetic disease, and House eventually concludes it's variegate porphyria. Meanwhile, House tries to help Cuddy's daughter Rachel get into...

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List of cutaneous conditions associated with internal malignancy

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Hodgkin's lymphoma (42%) Dermatitis herpetiformis Lymphoma Porphyria cutanea tarda and variegate porphyrias Hepatocellular Carcinoma Erythroderma and exfoliative...

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